Evidence map›Paper›PMID 42898147›Full record

ArticleFrontiers in immunology2026

Integrated genetic and functional analyses reveal the pathogenic effects of a novel

Chun Pan, Ping Zhang, Wenjuan Tang, Shengnan Wang, Zhiheng Huang, Xiaolan Lu, Yingying Meng, Haijiao Xia, Lin Wang, Ying Huang

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in immunology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Chun PanDepartment of Gastroenterology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Ping ZhangCenter of Molecular Medicine, Pediatrics Research Institute, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Wenjuan TangDepartment of Gastroenterology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Shengnan WangDepartment of Gastroenterology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Zhiheng HuangDepartment of Gastroenterology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Xiaolan LuDepartment of Gastroenterology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Yingying MengDepartment of Gastroenterology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Haijiao XiaDepartment of Gastroenterology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Lin WangDepartment of Gastroenterology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Ying HuangDepartment of Gastroenterology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Very early onset inflammatory bowel disease (VEOIBD) is frequently driven by monogenic defects. Pathogenic variants in the syntaxin-binding protein 3 ( Methods: We performed trio-whole-exome sequencing (trio-WES) on a male infant presenting with VEOIBD, sensorineural hearing loss, and immunodeficiency. Functional consequences of the identified variant were investigated using RNA sequencing (RNA-seq), reverse transcription-polymerase chain reaction (RT-PCR), western blotting and co-immunoprecipitation (co-IP) assay. A systematic literature review was conducted to analyze clinical features and inheritance patterns across all reported Results: A novel heterozygous splice-site variant in Conclusions: We identified a novel pathogenic

Indexed as

Immunologic Deficiency SyndromesInflammatory Bowel DiseasesExome SequencingGenetic Association StudiesGenetic Predisposition to DiseaseHearing Loss, SensorineuralHumansInfantMaleMutationgenotype-phenotype correlationprimary immunodeficiencysensorineural hearing lossSTXBP3VEOIBD

Identifiers

PMID42898147
PMCPMC13677368

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.